ArticlePloS one2019
Distribution of macular ganglion cell layer thickness in foveal hypoplasia: A new diagnostic criterion for ocular albinism.
Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 15 citations in OpenAlex.
- [Albinism: Clinical presentation, diagnostics and visual function].Die Ophthalmologie · 2026Review
- Genetic Linkage betweenInternational journal of molecular sciences · 2024Article
- Temporal-to-Nasal Macular Ganglion Cell and Inner Plexiform Layer Ratios in a Large Adult Twin Cohort: Correlations With Age and Heritability.Investigative ophthalmology & visual science · 2024Article
- Phenotypic Features Determining Visual Acuity in Albinism and the Role of Amblyogenic Factors.Investigative ophthalmology & visual science · 2024Article
- Visual Field Deficits in Albinism in Comparison to Idiopathic Infantile Nystagmus.Investigative ophthalmology & visual science · 2024Article
- Abnormal foveal morphology in carriers of oculocutaneous albinism.The British journal of ophthalmology · 2023Observational
- Clinical features and imaging characteristics in achiasmia.Brain communications · 2023Article
- Optical Coherence Tomography as a Biomarker for Differential Diagnostics in Nystagmus: Ganglion Cell Layer Thickness Ratio.Journal of clinical medicine · 2022Article
- Characterization of Retinal Thickness in Individuals with Albinism: Baseline Data for a Black South African Population.Clinical optometry · 2021Article
- Assessing Ganglion Cell Layer Topography in Human Albinism Using Optical Coherence Tomography.Investigative ophthalmology & visual science · 2020Article
- Clinical spectrum of blunted foveal contour.Therapeutic advances in ophthalmologyReview
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5 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND/
aimsTo analyse the distribution of macular ganglion cell layer thickness (GCLT) in patients with foveal hypoplasia (FH) with or without albinism to obtain new insights into visual pathway anomalies in albinos.
methodsPatients with FH who presented at our institution between 2013 and 2018 were retrospectively drawn for analysis. Mean GCLT was calculated after automated segmentation of spectral domain-optical coherence tomography (SD-OCT) scans. Patients with FH due to albinism (n = 13, termed 'albinism FH') or other kinds (n = 10, termed 'non-albinism FH') were compared with control subjects (n = 15). The areas: fovea (central), parafovea (nasal I, temporal I) and perifovea (nasal II, temporal II) along the horizontal meridian were of particular interest. Primary endpoints of this study were the ratios (GCLT-I- and GCLT-II-Quotient) between the GCLT measured in the temporal I or II and nasal I or II areas.
resultsThere was a significant difference between the GCLT-I-Quotient of healthy controls and albinism FH (p<0.001), as well as between non-albinism FH and albinism FH (p = 0.004). GCLT-II-Quotient showed significant differences between healthy controls and albinism FH (p<0.001) and between non-albinism FH and albinism FH (p = 0.006). The best measure for distinguishing between non-albinism FH and albinism FH was the calculation of GCLT-II-Quotient (area temporal II divided by area nasal II), indicating albinism at a cut-off of <0.7169. The estimated specificity and sensitivity for this cut-off were 84.6% and 100.0%, respectively. The estimated area under the curve (AUC) was 0.892 [95%CI: 0.743-1.000, p = 0.002].
conclusionMacular GCLT-distribution showed a characteristic temporal to central shift in patients with FH due to albinism. Calculation of the GCLT-II-Quotient at a cut-off of <0.7169 presents a new diagnostic criterion for identification of ocular albinism.
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